Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555291848
rs1555291848
ATP7B
A 0.700 GeneticVariation CLINVAR Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. 27022412

2016
dbSNP: rs1555291848
rs1555291848
ATP7B
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1555291848
rs1555291848
ATP7B
A 0.700 GeneticVariation CLINVAR Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration. 26782526

2015
dbSNP: rs1555291848
rs1555291848
ATP7B
A 0.700 GeneticVariation CLINVAR High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease. 20491539

2010